Congenital bilateral ectropion in lamellar ichthyosis.

Congenital eversion of the upper eye lid was first described in 1896, by Adams, and termed ‘double congenital ectropion’. The condition is usually bilateral, but unilateral cases have been described. The incidence appears to be higher in black infants with trisomy 21, and in collodion babies.[1] We report a rare case of severe bilateral ectropion of the upper eyelids in lamellar ichthyosis (collodion baby).

A four-day-old male baby, presented with bilateral upper lid ectropion and scaling of the skin. He was born to an 18-year-old primi-mother, with consanguineous marriage, at 36 weeks of gestation. His birth weight was 2 Kg. The baby was covered with a transparent, dry, parchment-like shiny membrane. There was marked ectropion of the upper eyelids, with mild conjunctival chemosis, bilateral absence of the eyebrows and eyelashes [Figure 1]. The lids were separated gently with a lid retractor. The cornea appeared healthy and pupillary reactions were brisk. The eyes were treated with hourly instillation of methyl cellulose 0.5% drops, 0.3% ciprofloxacillin eye drops every six hours, and hydroxy propyl methyl cellulose 2% eye ointment every four hours. Frequent massage of the lid skin with the same ointment was done. Wet saline gauze was placed over the face, covering the eyes, to prevent exposure keratitis. After two weeks of birth, the condition improved and the child could open his eyes partially [Figure 2]. The recovery was asymmetrical; the left eye responded better than the right eye. However, due to tautness of the membrane, the baby's eyes remained open. Skin biopsy from the anteromedial part of the left thigh confirmed the diagnosis [Figure 3]. The mother was advised to continue the same treatment. Frequent follow-ups were done to detect any complication. It took two months to resolve the ectropion completely. At a six-month follow-up there were no ocular complications [Figure 4].

Figure 1

Bilateral upper lid ectropion with collodion membrane

Figure 2

Partial resolution of ectropion after 2 weeks

Figure 3

Section shows compact orthokeratosis, keratotic plugging and mild psoriasiform epidermal hyperplasia, consistent with lamellar ichthyosis (H and E, ×100)

Figure 4

Complete resolution of ectropion at 6 months

Ichthyosis is a skin disorder characterized by excessive dryness of the skin and increased formation of epidermal scales. Four main types of ichthyosis are ichthyosis vulgaris, sex-linked recessive, lamellar ichthyosis, and epidermolytic hyperkeratosis. Lamellar ichthyosis is the rarest form with an incidence of 1 in 300,000. It has autosomal recessive inheritance.[2] Eight percent of such cases give a history of consanguinity, which has been a feature in our case. The condition is twice as common in males. Twenty-five percent of such children are born premature and in 51% the siblings are affected.[3]

Ocular manifestations include exposure keratitis secondary to ectropion, unilateral megalocornea, enlarged corneal nerve, blepharitis, absence of the meibomian gland, trichiasis, madarosis, and absence of lacrimal puncta. Ectropion of both upper and lower lids have been documented.[4] One-third of the children develop bilateral cicatricial ectropion due to excessive dryness of the skin and subsequent contracture. Secondary corneal ulceration may occur due to exposure. The X-linked type has been reported to have congenital cataract.[2] Late presentation can lead to severe, sight-threatening complications like desmetocele and corneal perforation. In such cases skin grafting of the eyelids, lateral tarsorraphy and penetrating keratoplasty may be required.[1] Ectropion in lamellar ichthyosis may respond to conservative management in the early period of life in about half of the cases.[2] The collodion membrane must not be debrided.[5] Management of such cases requires the expertise of a dermatologist, pediatrician, ophthalmologist, geneticist, and physiotherapist.